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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1981 1
1982 1
1984 1
1985 1
1986 3
1987 5
1988 2
1989 3
1990 1
1991 1
1992 4
1993 6
1994 12
1995 14
1996 6
1997 7
1998 3
1999 7
2000 12
2001 5
2002 6
2003 14
2004 5
2005 10
2006 9
2007 10
2008 9
2009 9
2010 4
2011 11
2012 20
2013 13
2014 4
2015 10
2016 9
2017 6
2018 8
2019 11
2020 7
2021 10
2022 4
2023 6
2024 4

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275 results

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Page 1
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. Zhu J, et al. Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013. Endocr Rev. 2020. PMID: 32364223 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...It has significant associated morbidity and mortality. A recent gene therapy clinical trial for ALD reported short-term MRI and neurological outcomes …
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...It has significant asso …
Health benefits of docosahexaenoic acid (DHA).
Horrocks LA, Yeo YK. Horrocks LA, et al. Pharmacol Res. 1999 Sep;40(3):211-25. doi: 10.1006/phrs.1999.0495. Pharmacol Res. 1999. PMID: 10479465 Review.
DHA deficiencies are associated with foetal alcohol syndrome, attention deficit hyperactivity disorder, cystic fibrosis, phenylketonuria, unipolar depression, aggressive hostility, and adrenoleukodystrophy. Decreases in DHA in the brain are associated with cognitive declin …
DHA deficiencies are associated with foetal alcohol syndrome, attention deficit hyperactivity disorder, cystic fibrosis, phenylketonuria, un …
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA. Eichler F, et al. N Engl J Med. 2017 Oct 26;377(17):1630-1638. doi: 10.1056/NEJMoa1700554. Epub 2017 Oct 4. N Engl J Med. 2017. PMID: 28976817 Free PMC article. Clinical Trial.
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. ...
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleuko …
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and primary a …
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core c …
Adrenal insufficiency.
Auron M, Raissouni N. Auron M, et al. Pediatr Rev. 2015 Mar;36(3):92-102; quiz 103, 129. doi: 10.1542/pir.36-3-92. Pediatr Rev. 2015. PMID: 25733761
In children, the most common causes of primary adrenal insufficiency are impaired adrenal steroidogenesis (congenital adrenal hyperplasia) and adrenal destruction or dysfunction (autoimmune polyendocrine syndrome and adrenoleukodystrophy), whereas exogenous corticosteroid …
In children, the most common causes of primary adrenal insufficiency are impaired adrenal steroidogenesis (congenital adrenal hyperplasia) a …
Adrenoleukodystrophy.
Moser HW. Moser HW. Curr Opin Neurol. 1995 Jun;8(3):221-6. doi: 10.1097/00019052-199506000-00011. Curr Opin Neurol. 1995. PMID: 7551122 Review.
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gene' reported in 1993 have been confirmed. Mutations in this gene have been demonstrated in all of the 80 adrenoleukodystrophy families …
The main advances concerning adrenoleukodystrophy have been in the fields of genetics and therapy. Abnormalities in the 'putative gen …
X-linked adrenoleukodystrophy.
Moser HW, Mahmood A, Raymond GV. Moser HW, et al. Nat Clin Pract Neurol. 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. Nat Clin Pract Neurol. 2007. PMID: 17342190 Review.
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. ...
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membran …
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C. Cappa M, et al. Front Endocrinol (Lausanne). 2023 Nov 16;14:1309053. doi: 10.3389/fendo.2023.1309053. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38034003 Free PMC article. Review.
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). ...Although the as …
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the A …
Gene-Based Approaches to Inherited Neurometabolic Diseases.
Poletti V, Biffi A. Poletti V, et al. Hum Gene Ther. 2019 Oct;30(10):1222-1235. doi: 10.1089/hum.2019.190. Epub 2019 Sep 10. Hum Gene Ther. 2019. PMID: 31397176 Review.
These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology and with the novel establishment of academic-industrial partnerships. ...This review provides an overview of the GT strategies currently under …
These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology an …
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Honey MIJ, Jaspers YRJ, Engelen M, Kemp S, Huffnagel IC. Honey MIJ, et al. Cells. 2021 Dec 6;10(12):3427. doi: 10.3390/cells10123427. Cells. 2021. PMID: 34943935 Free PMC article. Review.
Patients present with heterogeneous clinical manifestations which can include adrenal insufficiency, myelopathy, and/or cerebral demyelination. ...Therefore, there is an unmet clinical need for sensitive biomarkers to monitor and/or predict disease progression and e …
Patients present with heterogeneous clinical manifestations which can include adrenal insufficiency, myelopathy, and/or cerebral demy …
275 results